Canonical Allele Identifier: CA5791386

Gene: PNPLA2

Linked Data

• ClinVar Variation Id: 261233
• ClinVar RCV Id: RCV000250507 ; RCV000401957 ; RCV002518647
• dbSNP Id: rs187668158
• ExAC: 11:824711 C / A
• gnomAD v2: 11-824711-C-A
• gnomAD v3: 11-824711-C-A
• gnomAD v4: 11-824711-C-A
• MyVariant Identifiers: chr11:g.824711C>A (hg19) ; chr11:g.824711C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.824711C>A , CM000673.2:g.824711C>A	GRCh38
NC_000011.9:g.824711C>A , CM000673.1:g.824711C>A	GRCh37
NC_000011.8:g.814711C>A	NCBI36
NG_023394.1:g.10811C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.1364C>A MANE Select	ENSP00000337701.4:p.Pro455Gln
ENST00000336615.8:c.1364C>A	ENSP00000337701.4:p.Pro455Gln
ENST00000525250.5:n.2218C>A
ENST00000529255.1:n.794C>A
ENST00000617551.1:c.362C>A	ENSP00000481602.1:p.Pro121Gln
NM_020376.3:c.1364C>A	NP_065109.1:p.Pro455Gln
XM_006718265.2:c.1506C>A	XP_006718328.1:p.Pro502=
XM_006718266.2:c.1506C>A	XP_006718329.1:p.Pro502=
XM_006718265.3:c.1506C>A	XP_006718328.1:p.Pro502=
XM_006718266.3:c.1506C>A	XP_006718329.1:p.Pro502=
XM_017018028.1:c.1364C>A	XP_016873517.1:p.Pro455Gln
XM_024448618.1:c.1592C>A	XP_024304386.1:p.Pro531Gln
NM_020376.4:c.1364C>A MANE Select	NP_065109.1:p.Pro455Gln